FRMD7 R468H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

FRMD7 R468H

(FRMD7 Arg468His)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chrX:131212642: 6.4% (559/8761) in EVS
  • T @ chrX:131040322: 7.6% (7/92) in GET-Evidence
  • Frequency shown in summary reports: 6.4% (559/8761)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chrX:131212642

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom T @ chrX:131212642

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chrX:131212642

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chrX:131040323

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chrX:131040323

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chrX:131040323

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chrX:131040323

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chrX:131040323

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chrX:131040323

 

Other external references
 

    dbSNP
  • rs6637934
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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